E5D (p.Glu5Asp) variant of NFE2L2 (Q16236)
E5D (p.Glu5Asp) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- Ensembl rs2105503053
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available